Incidental Mutation 'R1883:Tecpr1'
ID 209245
Institutional Source Beutler Lab
Gene Symbol Tecpr1
Ensembl Gene ENSMUSG00000066621
Gene Name tectonin beta-propeller repeat containing 1
Synonyms 2210010N04Rik
MMRRC Submission 039904-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1883 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 144131260-144160433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144143347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 676 (V676A)
Ref Sequence ENSEMBL: ENSMUSP00000082844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085701]
AlphaFold Q80VP0
Predicted Effect probably benign
Transcript: ENSMUST00000085701
AA Change: V676A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: V676A

DomainStartEndE-ValueType
TECPR 23 59 8.98e1 SMART
DysFN 64 125 6.72e-24 SMART
DysFC 137 170 1.89e-9 SMART
TECPR 192 225 1.79e-1 SMART
TECPR 234 270 2.5e-9 SMART
TECPR 279 317 4.99e-9 SMART
TECPR 326 361 2.42e-7 SMART
low complexity region 381 394 N/A INTRINSIC
PH 614 724 1.69e-2 SMART
TECPR 711 750 1.88e-4 SMART
TECPR 766 800 3.27e-4 SMART
DysFN 821 882 2.95e-20 SMART
DysFC 893 926 1.66e-14 SMART
TECPR 940 974 1.69e1 SMART
TECPR 983 1019 1.45e-5 SMART
TECPR 1028 1065 1.51e-8 SMART
TECPR 1074 1109 1.59e-2 SMART
low complexity region 1125 1137 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153751
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano9 T C 7: 140,682,244 (GRCm39) E677G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bhmt1b T C 18: 87,774,669 (GRCm39) L64P probably damaging Het
Brs3 T C X: 56,092,449 (GRCm39) I311T probably benign Het
Capn9 A G 8: 125,338,297 (GRCm39) K552R probably benign Het
Catsperg1 C T 7: 28,881,661 (GRCm39) probably null Het
Cdc16 A G 8: 13,825,738 (GRCm39) N449D probably damaging Het
Cdyl2 A T 8: 117,321,902 (GRCm39) N208K probably damaging Het
Cnot4 C T 6: 35,055,092 (GRCm39) V66I probably damaging Het
Cntn4 A G 6: 106,656,353 (GRCm39) T885A probably benign Het
Col20a1 C T 2: 180,634,703 (GRCm39) T131I possibly damaging Het
Crybg2 C A 4: 133,801,594 (GRCm39) S918* probably null Het
Dact2 A T 17: 14,418,085 (GRCm39) S207T possibly damaging Het
Dbnl G A 11: 5,749,247 (GRCm39) G356E probably benign Het
Ddx18 C A 1: 121,495,645 (GRCm39) probably benign Het
Dis3 A T 14: 99,328,905 (GRCm39) H282Q probably benign Het
Dnah3 T C 7: 119,677,142 (GRCm39) D453G probably benign Het
Dst T C 1: 34,228,389 (GRCm39) V1994A possibly damaging Het
Dusp8 C T 7: 141,638,085 (GRCm39) probably null Het
Eipr1 A T 12: 28,816,850 (GRCm39) H69L possibly damaging Het
Eml1 A G 12: 108,429,911 (GRCm39) R65G probably damaging Het
Epha7 C T 4: 28,950,362 (GRCm39) H722Y possibly damaging Het
Epyc A T 10: 97,511,695 (GRCm39) K229N possibly damaging Het
Extl1 A G 4: 134,091,917 (GRCm39) I312T probably benign Het
F13a1 G C 13: 37,172,981 (GRCm39) A133G probably benign Het
Fam185a G T 5: 21,630,242 (GRCm39) C26F possibly damaging Het
Fam186b T C 15: 99,176,679 (GRCm39) N737S probably damaging Het
Fam78b A G 1: 166,829,171 (GRCm39) I13V probably benign Het
Fat1 A T 8: 45,504,184 (GRCm39) Q4559L probably benign Het
Fnip1 T C 11: 54,406,373 (GRCm39) S1157P probably damaging Het
Foxj3 A C 4: 119,467,226 (GRCm39) M190L probably benign Het
Heatr3 T C 8: 88,871,221 (GRCm39) Y192H possibly damaging Het
Hexd T A 11: 121,098,524 (GRCm39) S3T probably benign Het
Klf3 C T 5: 64,980,224 (GRCm39) P5S probably damaging Het
Klf9 C T 19: 23,142,101 (GRCm39) S187L probably damaging Het
Krt9 T C 11: 100,079,523 (GRCm39) H623R unknown Het
Krtap2-4 G C 11: 99,505,505 (GRCm39) probably benign Het
Lmtk3 T C 7: 45,436,273 (GRCm39) Y84H probably damaging Het
Mroh3 G T 1: 136,134,731 (GRCm39) A166D probably damaging Het
Musk C A 4: 58,373,189 (GRCm39) P697T probably benign Het
Nek9 A G 12: 85,379,330 (GRCm39) L192P probably damaging Het
Nipbl A C 15: 8,356,616 (GRCm39) F1590C probably damaging Het
Nrk G T X: 137,907,922 (GRCm39) V1455F probably damaging Het
Nsun3 T C 16: 62,555,656 (GRCm39) D290G probably damaging Het
Obscn T C 11: 58,969,029 (GRCm39) T222A probably damaging Het
Or2a12 T C 6: 42,904,764 (GRCm39) S200P probably damaging Het
Or51f1d T C 7: 102,701,189 (GRCm39) I228T probably benign Het
Or6b9 T C 7: 106,555,981 (GRCm39) H54R probably benign Het
Osbpl11 T G 16: 33,034,723 (GRCm39) H237Q probably benign Het
Pde10a A T 17: 9,197,776 (GRCm39) T671S possibly damaging Het
Pkd2 A T 5: 104,631,094 (GRCm39) N506I probably damaging Het
Ppp3cb A G 14: 20,573,913 (GRCm39) V274A possibly damaging Het
Prex1 T C 2: 166,425,192 (GRCm39) D938G probably benign Het
Ptch1 G A 13: 63,659,841 (GRCm39) Q1134* probably null Het
Rasgrf2 A G 13: 92,117,149 (GRCm39) V820A probably benign Het
Rimbp2 C T 5: 128,880,998 (GRCm39) V137M possibly damaging Het
Rpa1 A G 11: 75,209,309 (GRCm39) V137A probably benign Het
Rps6ka1 A C 4: 133,591,354 (GRCm39) I299S probably damaging Het
Scn3b A C 9: 40,190,669 (GRCm39) probably null Het
Sdha A T 13: 74,481,255 (GRCm39) I317N probably damaging Het
Serpina1d T A 12: 103,732,037 (GRCm39) D274V possibly damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Snx14 T A 9: 88,284,314 (GRCm39) E451D probably benign Het
Spmip4 T C 6: 50,551,433 (GRCm39) T339A probably benign Het
Swt1 T A 1: 151,299,284 (GRCm39) K8* probably null Het
Tas1r3 G T 4: 155,946,610 (GRCm39) P332T probably damaging Het
Tas2r126 A T 6: 42,411,961 (GRCm39) T165S probably benign Het
Tg A G 15: 66,543,158 (GRCm39) E24G probably damaging Het
Tlr7 C T X: 166,089,468 (GRCm39) G673S probably benign Het
Tnxb T A 17: 34,908,539 (GRCm39) D1520E probably benign Het
Trabd A G 15: 88,966,184 (GRCm39) E47G probably damaging Het
Trim29 T A 9: 43,222,702 (GRCm39) I177N probably damaging Het
Ubxn2a A T 12: 4,944,563 (GRCm39) L53* probably null Het
Ulk2 A G 11: 61,721,438 (GRCm39) L208P probably damaging Het
Unc80 G A 1: 66,564,929 (GRCm39) C872Y possibly damaging Het
Vac14 A G 8: 111,438,319 (GRCm39) H644R probably damaging Het
Vmn1r20 C A 6: 57,409,306 (GRCm39) H211N probably benign Het
Vmn1r31 C T 6: 58,449,029 (GRCm39) V279I probably damaging Het
Vmn2r18 G T 5: 151,499,190 (GRCm39) Q425K probably benign Het
Vmn2r60 T C 7: 41,786,094 (GRCm39) V299A probably damaging Het
Vps54 A T 11: 21,262,967 (GRCm39) T685S possibly damaging Het
Vwa5b1 A G 4: 138,302,700 (GRCm39) W932R probably damaging Het
Wdr53 A T 16: 32,075,316 (GRCm39) I174F possibly damaging Het
Zfp157 A G 5: 138,443,102 (GRCm39) D31G probably damaging Het
Zfp60 T C 7: 27,449,435 (GRCm39) L701P probably benign Het
Zfp609 A T 9: 65,702,040 (GRCm39) M204K probably benign Het
Zfp831 A G 2: 174,545,870 (GRCm39) H1325R possibly damaging Het
Zfp995 A T 17: 22,099,622 (GRCm39) I204N probably benign Het
Zp2 C T 7: 119,732,624 (GRCm39) D641N probably benign Het
Other mutations in Tecpr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Tecpr1 APN 5 144,145,411 (GRCm39) critical splice donor site probably null
IGL01774:Tecpr1 APN 5 144,148,358 (GRCm39) missense probably damaging 0.97
IGL01960:Tecpr1 APN 5 144,153,737 (GRCm39) missense probably benign 0.00
IGL01973:Tecpr1 APN 5 144,134,806 (GRCm39) splice site probably benign
IGL02244:Tecpr1 APN 5 144,146,821 (GRCm39) missense probably benign
IGL02247:Tecpr1 APN 5 144,143,372 (GRCm39) missense possibly damaging 0.64
IGL02423:Tecpr1 APN 5 144,140,305 (GRCm39) missense possibly damaging 0.88
IGL02679:Tecpr1 APN 5 144,143,364 (GRCm39) missense probably benign 0.28
larghissimo UTSW 5 144,154,075 (GRCm39) missense probably damaging 1.00
PIT4531001:Tecpr1 UTSW 5 144,150,885 (GRCm39) missense probably damaging 0.96
R0121:Tecpr1 UTSW 5 144,147,017 (GRCm39) missense probably benign 0.02
R0125:Tecpr1 UTSW 5 144,134,717 (GRCm39) missense probably damaging 1.00
R0194:Tecpr1 UTSW 5 144,155,335 (GRCm39) missense probably damaging 1.00
R0376:Tecpr1 UTSW 5 144,144,294 (GRCm39) missense possibly damaging 0.94
R0441:Tecpr1 UTSW 5 144,132,759 (GRCm39) missense probably benign
R0504:Tecpr1 UTSW 5 144,150,899 (GRCm39) missense probably damaging 0.99
R0538:Tecpr1 UTSW 5 144,143,092 (GRCm39) missense probably damaging 0.99
R0586:Tecpr1 UTSW 5 144,154,219 (GRCm39) missense probably damaging 1.00
R0607:Tecpr1 UTSW 5 144,149,408 (GRCm39) missense probably damaging 1.00
R0608:Tecpr1 UTSW 5 144,148,317 (GRCm39) missense probably damaging 1.00
R0656:Tecpr1 UTSW 5 144,150,871 (GRCm39) splice site probably null
R0835:Tecpr1 UTSW 5 144,149,410 (GRCm39) missense possibly damaging 0.81
R1080:Tecpr1 UTSW 5 144,153,747 (GRCm39) missense probably damaging 1.00
R1394:Tecpr1 UTSW 5 144,143,357 (GRCm39) missense possibly damaging 0.77
R1597:Tecpr1 UTSW 5 144,151,128 (GRCm39) missense probably benign 0.00
R1663:Tecpr1 UTSW 5 144,134,762 (GRCm39) missense probably benign 0.17
R1785:Tecpr1 UTSW 5 144,145,463 (GRCm39) missense probably benign 0.01
R1786:Tecpr1 UTSW 5 144,145,463 (GRCm39) missense probably benign 0.01
R1833:Tecpr1 UTSW 5 144,145,426 (GRCm39) missense probably damaging 0.99
R1988:Tecpr1 UTSW 5 144,141,515 (GRCm39) missense possibly damaging 0.94
R2130:Tecpr1 UTSW 5 144,145,463 (GRCm39) missense probably benign 0.01
R2131:Tecpr1 UTSW 5 144,145,463 (GRCm39) missense probably benign 0.01
R2132:Tecpr1 UTSW 5 144,145,463 (GRCm39) missense probably benign 0.01
R2133:Tecpr1 UTSW 5 144,145,463 (GRCm39) missense probably benign 0.01
R2172:Tecpr1 UTSW 5 144,148,274 (GRCm39) missense probably benign 0.10
R2172:Tecpr1 UTSW 5 144,133,235 (GRCm39) missense probably damaging 1.00
R2290:Tecpr1 UTSW 5 144,150,881 (GRCm39) missense probably damaging 0.99
R3691:Tecpr1 UTSW 5 144,146,797 (GRCm39) missense probably benign 0.10
R4027:Tecpr1 UTSW 5 144,143,077 (GRCm39) missense probably benign 0.41
R4587:Tecpr1 UTSW 5 144,149,408 (GRCm39) missense probably damaging 0.96
R4684:Tecpr1 UTSW 5 144,144,255 (GRCm39) missense probably benign 0.16
R4864:Tecpr1 UTSW 5 144,150,935 (GRCm39) missense probably benign 0.00
R4932:Tecpr1 UTSW 5 144,141,476 (GRCm39) missense probably damaging 0.97
R4955:Tecpr1 UTSW 5 144,154,075 (GRCm39) missense probably damaging 1.00
R5043:Tecpr1 UTSW 5 144,134,672 (GRCm39) splice site probably null
R5459:Tecpr1 UTSW 5 144,144,234 (GRCm39) missense probably damaging 1.00
R5579:Tecpr1 UTSW 5 144,151,162 (GRCm39) missense possibly damaging 0.55
R5677:Tecpr1 UTSW 5 144,155,451 (GRCm39) nonsense probably null
R5679:Tecpr1 UTSW 5 144,144,241 (GRCm39) missense possibly damaging 0.69
R5802:Tecpr1 UTSW 5 144,143,364 (GRCm39) missense probably benign 0.28
R6000:Tecpr1 UTSW 5 144,148,239 (GRCm39) missense probably benign 0.02
R6022:Tecpr1 UTSW 5 144,136,009 (GRCm39) missense possibly damaging 0.95
R6114:Tecpr1 UTSW 5 144,141,458 (GRCm39) missense possibly damaging 0.81
R6251:Tecpr1 UTSW 5 144,135,394 (GRCm39) missense probably damaging 0.97
R6372:Tecpr1 UTSW 5 144,153,776 (GRCm39) missense probably damaging 1.00
R6493:Tecpr1 UTSW 5 144,146,792 (GRCm39) missense probably benign
R7276:Tecpr1 UTSW 5 144,153,838 (GRCm39) nonsense probably null
R7314:Tecpr1 UTSW 5 144,154,150 (GRCm39) missense probably damaging 1.00
R7375:Tecpr1 UTSW 5 144,145,417 (GRCm39) missense possibly damaging 0.68
R7632:Tecpr1 UTSW 5 144,155,544 (GRCm39) missense probably benign 0.03
R7702:Tecpr1 UTSW 5 144,140,236 (GRCm39) missense probably damaging 1.00
R8135:Tecpr1 UTSW 5 144,135,420 (GRCm39) missense probably damaging 0.99
R8406:Tecpr1 UTSW 5 144,137,658 (GRCm39) missense probably damaging 1.00
R8844:Tecpr1 UTSW 5 144,153,117 (GRCm39) missense possibly damaging 0.94
R8856:Tecpr1 UTSW 5 144,153,117 (GRCm39) missense possibly damaging 0.94
R8857:Tecpr1 UTSW 5 144,153,117 (GRCm39) missense possibly damaging 0.94
R8866:Tecpr1 UTSW 5 144,153,117 (GRCm39) missense possibly damaging 0.94
R8903:Tecpr1 UTSW 5 144,150,845 (GRCm39) intron probably benign
R8926:Tecpr1 UTSW 5 144,153,780 (GRCm39) missense probably damaging 1.00
R9218:Tecpr1 UTSW 5 144,154,049 (GRCm39) missense possibly damaging 0.70
R9423:Tecpr1 UTSW 5 144,155,396 (GRCm39) missense probably damaging 0.98
RF001:Tecpr1 UTSW 5 144,154,204 (GRCm39) missense probably damaging 0.99
Z1176:Tecpr1 UTSW 5 144,155,409 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- GGTCAATGCTGGGCAGAATG -3'
(R):5'- CATTCAACTCCCAAAAGCGGTG -3'

Sequencing Primer
(F):5'- CAGAATGAGGCCTGGGTGC -3'
(R):5'- AATTCCGGGCTTTGCTAGACAAG -3'
Posted On 2014-06-30